Conditions / Syndrome
ectodermal dysplasia 11B
info · Syndrome
A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43.
Signs and symptoms
- Absent eyebrow
- Absent eyelashes
- Dry skin
- Ectodermal dysplasia
- Rhinitis
- Xerostomia
- Sparse scalp hair
- Hypodontia
- Recurrent respiratory infections
- Anhidrosis
Also known as: ECTD11B; ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive